Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided b... See more...

Aliases for RARS1 Gene

Aliases for RARS1 Gene

  • Arginyl-TRNA Synthetase 1 2 3
  • Arginyl-TRNA Synthetase 2 4 5
  • Arginine TRNA Ligase 1, Cytoplasmic 2 3
  • Arginine--TRNA Ligase, Cytoplasmic 3 4
  • EC 6.1.1.19 4 54
  • ArgRS 3 4
  • RARS 3 5
  • Arginyl-TRNA Synthetase, Cytoplasmic 3
  • DALRD1 3
  • HLD9 3

External Ids for RARS1 Gene

Previous HGNC Symbols for RARS1 Gene

  • RARS

Summaries for RARS1 Gene

Entrez Gene Summary for RARS1 Gene

  • Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]

GeneCards Summary for RARS1 Gene

RARS1 (Arginyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with RARS1 include Leukodystrophy, Hypomyelinating, 9 and Embryonal Carcinoma. Among its related pathways are tRNA Aminoacylation and Amino Acid metabolism. An important paralog of this gene is RARS2.

UniProtKB/Swiss-Prot Summary for RARS1 Gene

  • Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:25288775). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1 (PubMed:17443684).

Gene Wiki entry for RARS1 Gene

Additional gene information for RARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RARS1 Gene

Genomics for RARS1 Gene

GeneHancer (GH) Regulatory Elements for RARS1 Gene

Promoters and enhancers for RARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RARS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RARS1 Gene

Genomic Locations for RARS1 Gene
chr5:168,486,451-168,519,306
(GRCh38/hg38)
Size:
32,856 bases
Orientation:
Plus strand
chr5:167,913,450-167,946,311
(GRCh37/hg19)
Size:
32,862 bases
Orientation:
Plus strand

Genomic View for RARS1 Gene

Genes around RARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RARS1 Gene

Proteins for RARS1 Gene

  • Protein details for RARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54136-SYRC_HUMAN
    Recommended name:
    Arginine--tRNA ligase, cytoplasmic
    Protein Accession:
    P54136
    Secondary Accessions:
    • B2RBS9
    • Q53GY4
    • Q9BWA1

    Protein attributes for RARS1 Gene

    Size:
    660 amino acids
    Molecular mass:
    75379 Da
    Quaternary structure:
    • Interacts (via N-terminus) with AIMP1 (via N-terminus); this stimulates its catalytic activity (PubMed:10358004, PubMed:25288775). Interacts (via N-terminus) with LARS2 (via C-terminus) (PubMed:16055448, PubMed:17443684). Monomer (PubMed:24859084). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464). Interacts with QARS (PubMed:24656866). Part of a complex composed of RARS, QARS and AIMP1 (PubMed:25288775).

    Three dimensional structures from OCA and Proteopedia for RARS1 Gene

    Alternative splice isoforms for RARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RARS1 Gene

Selected DME Specific Peptides for RARS1 Gene

P54136:
  • CYCVEKDRQ
  • HVGHLRST
  • SSPNIAK
  • HFQTIFAAAQMIGWYDPKVT
  • HEKEWKL
  • GCIKYADLSHNR
  • FSFDKML
  • EIAGPGF
  • MHVGHLR
  • AGPGFIN
  • GHLRSTIIG
  • FGDYQCN
  • KERDKVLT
  • ERGESFY
  • FYKESKKRFD
  • EEFKKRAY
  • MAKGFDILGIKPV
  • GDWGTQFG
  • KKFKTRSG

Post-translational modifications for RARS1 Gene

  • Ubiquitination at Lys20, Lys205, Lys362, Lys393, and Lys557
  • Modification sites at PhosphoSitePlus

Other Protein References for RARS1 Gene

Domains & Families for RARS1 Gene

Gene Families for RARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RARS1 Gene

GenScript: Design optimal peptide antigens:
  • Arginine--tRNA ligase (SYRC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54136

UniProtKB/Swiss-Prot:

SYRC_HUMAN :
  • The alpha-helical N-terminus (residues 1-72) mediates interaction with AIMP1 and thereby contributes to the assembly of the multisynthetase complex.
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Domain:
  • The alpha-helical N-terminus (residues 1-72) mediates interaction with AIMP1 and thereby contributes to the assembly of the multisynthetase complex.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with RARS1: view

Function for RARS1 Gene

Molecular function for RARS1 Gene

UniProtKB/Swiss-Prot Function:
Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:25288775). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1 (PubMed:17443684).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg); Xref=Rhea:RHEA:20301, Rhea:RHEA-COMP:9658, Rhea:RHEA-COMP:9673, ChEBI:CHEBI:30616, ChEBI:CHEBI:32682, ChEBI:CHEBI:33019, ChEBI:CHEBI:78442, ChEBI:CHEBI:78513, ChEBI:CHEBI:456215; EC=6.1.1.19; Evidence={ECO:0000269 PubMed:16055448, ECO:0000269 PubMed:25288775};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.9 uM for arginine (ATP-PPi exchange at 37 degrees Celsius) {ECO:0000269 PubMed:16055448}; KM=3.5 uM for arginine (arginylation at 37 degrees Celsius) {ECO:0000269 PubMed:16055448}; KM=1183 uM for ATP (ATP-PPi exchange at 37 Celsius) {ECO:0000269 PubMed:16055448}; KM=910 uM for ATP (arginylation at 37 Celsius) {ECO:0000269 PubMed:16055448}; KM=0.05 uM for calf liver tRNA-Arg (ATP-PPi exchange at 37 Celsius) {ECO:0000269 PubMed:16055448}; KM=0.41 uM for calf liver tRNA-Arg (arginylation at 37 Celsius) {ECO:0000269 PubMed:16055448};

Enzyme Numbers (IUBMB) for RARS1 Gene

Phenotypes From GWAS Catalog for RARS1 Gene

Gene Ontology (GO) - Molecular Function for RARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004814 arginine-tRNA ligase activity IEA,TAS --
GO:0005515 protein binding IPI 16055448
genes like me logo Genes that share ontologies with RARS1: view
genes like me logo Genes that share phenotypes with RARS1: view

Human Phenotype Ontology for RARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RARS1 Gene

MGI Knock Outs for RARS1:
  • Rars Rars<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for RARS1 Gene

Localization for RARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RARS1 Gene

Cytoplasm. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RARS1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10791971
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 10791971
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with RARS1: view

Pathways & Interactions for RARS1 Gene

genes like me logo Genes that share pathways with RARS1: view

Pathways by source for RARS1 Gene

Gene Ontology (GO) - Biological Process for RARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006420 arginyl-tRNA aminoacylation IDA,IEA 25288775
genes like me logo Genes that share ontologies with RARS1: view

No data available for SIGNOR curated interactions for RARS1 Gene

Drugs & Compounds for RARS1 Gene

(31) Drugs for RARS1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3240
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
L-Arginine Approved Nutra Full agonist, Agonist 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(21) Additional Compounds for RARS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with RARS1: view

Transcripts for RARS1 Gene

mRNA/cDNA for RARS1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RARS1 Gene

No ASD Table

Relevant External Links for RARS1 Gene

GeneLoc Exon Structure for
RARS1
ECgene alternative splicing isoforms for
RARS1

Expression for RARS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of RARS1 Gene:

RARS1

SOURCE GeneReport for Unigene cluster for RARS1 Gene:

Hs.654907

Evidence on tissue expression from TISSUES for RARS1 Gene

  • Liver(4.7)
  • Nervous system(4.7)
  • Blood(4.6)
  • Muscle(4.5)
  • Skin(4)
  • Kidney(3.6)
  • Lung(3.1)
  • Bone marrow(2.9)
  • Heart(2.8)
  • Thyroid gland(2.7)
  • Eye(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RARS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with RARS1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for RARS1 Gene

Orthologs for RARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RARS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RARS 33 32
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RARS 33 32
  • 91.82 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 91 (a)
OneToMany
-- 33
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RARS 33 32
  • 90.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RARS 33
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rars 17 33 32
  • 86.97 (n)
rat
(Rattus norvegicus)
Mammalia Rars 32
  • 86.52 (n)
chicken
(Gallus gallus)
Aves RARS 33 32
  • 77.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RARS 33
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rars 32
  • 73.38 (n)
MGC76310 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.6139 32
zebrafish
(Danio rerio)
Actinopterygii rars 33 32
  • 70.33 (n)
OneToOne
wufa96g09 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.401 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004708 32
  • 57.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Aats-arg 33 32
  • 57 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rars-1 33 32
  • 58.16 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 33
  • 26 (a)
ManyToMany
MSR1 33
  • 23 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1027 32
  • 53.6 (n)
soybean
(Glycine max)
eudicotyledons Gma.10893 32
rice
(Oryza sativa)
Liliopsida Os05g0163000 32
  • 53.77 (n)
Os.6153 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 59 (a)
OneToOne
Cin.11500 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11500 32
Species where no ortholog for RARS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RARS1 Gene

ENSEMBL:
Gene Tree for RARS1 (if available)
TreeFam:
Gene Tree for RARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RARS1: view image

Paralogs for RARS1 Gene

Paralogs for RARS1 Gene

Pseudogenes.org Pseudogenes for RARS1 Gene

genes like me logo Genes that share paralogs with RARS1: view

Variants for RARS1 Gene

Sequence variations from dbSNP and Humsavar for RARS1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1064792894 pathogenic, Leukodystrophy, hypomyelinating, 9 168,518,035(+) TA/ coding_sequence_variant, frameshift
rs139644798 pathogenic, Leukodystrophy, hypomyelinating, 9 168,510,601(+) C/T coding_sequence_variant, missense_variant
rs2305725 benign, likely-benign, not specified 168,486,454(+) C/A/G/T upstream_transcript_variant
rs2305734 benign, not specified, - 168,506,153(+) T/A coding_sequence_variant, missense_variant
rs244903 benign, not specified, - 168,486,505(+) G/A/C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RARS1 Gene

Variant ID Type Subtype PubMed ID
nsv516697 CNV loss 19592680

Variation tolerance for RARS1 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RARS1 Gene

Disorders for RARS1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for RARS1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 9
  • hld9
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
acute promyelocytic leukemia
  • apl
pelizaeus-merzbacher disease
  • pmd
leukodystrophy
  • leukodystrophies
- elite association - COSMIC cancer census association via MalaCards
Search RARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYRC_HUMAN
  • Leukodystrophy, hypomyelinating, 9 (HLD9) [MIM:616140]: An autosomal recessive neurodegenerative disorder characterized by delayed psychomotor development, severe spasticity, nystagmus, and ataxia associated with diffuse hypomyelination apparent on brain MRI. {ECO:0000269 PubMed:24777941}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RARS1

genes like me logo Genes that share disorders with RARS1: view

No data available for Genatlas for RARS1 Gene

Publications for RARS1 Gene

  1. Cloning and characterization of cDNA encoding a human arginyl-tRNA synthetase. (PMID: 7590355) Girjes AA … Lavin MF (Gene 1995) 2 3 4 23 56
  2. The C-terminal appended domain of human cytosolic leucyl-tRNA synthetase is indispensable in its interaction with arginyl-tRNA synthetase in the multi-tRNA synthetase complex. (PMID: 16055448) Ling C … Wang ED (The Journal of biological chemistry 2005) 3 4 23 56
  3. Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation. (PMID: 25288775) Fu Y … Cho Y (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 56
  4. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. (PMID: 24656866) Zhang X … Nabbout R (American journal of human genetics 2014) 3 4 56
  5. Mutations in RARS cause hypomyelination. (PMID: 24777941) Wolf NI … Waisfisz Q (Annals of neurology 2014) 3 4 56

Products for RARS1 Gene

Sources for RARS1 Gene